Visual classification of banded human chromosomes I. Karyotyping compared with classification of isolated chromosomes

Publisher Website
Google Scholar
Abstract
Visual karyotyping and visual classification of isolated chromosomes was carried out by 7 investigators on 22 trypsin banded metaphases of average quality. An average error rate of 0.1% (0-0.4%) and the classification of isolated chromosomes resulted in an error rate of 3% (2-5%). The B and F group chromosomes were most difficult to classify when isolated, while no errors were made of the no. 1 and the X chromosome. Large differences were seen in the resulting error pattern for the individual investigators both with regard to their total error rate and also the chromosome types which they most frequently misclassified. More than 95% of the chromosomes in an average quality material contain features upon which a reliable visual classification can be made. These chromosomes may be classified by computer on the basis of these features. The fact that visual karyotyping is much more reliable than visual classification of isolated chromosomes indicated that computer classification of chromosomes should include programming capable of making appropriate comparison between the chromosomes in the metaphase and at the same time take into account the expected presence of 23 chromosome pairs for normal cells. This would simulate the human performance of visual karyotyping and make a classification possible of at least some of the remaining 5% difficult chromosomes.

This publication has 1 reference indexed in Scilit: